Phenotype #0000153999

Individual ID 00205843
Associated disease NEM
Phenotype details EM rods and cores, slow progression (diabling>50y), muscle weakness neck/proximal, no cardiac abnormalities
Diagnosis/Initial nemaline myopathy
Inheritance Familial, autosomal dominant
Diagnosis/Definite NEM-6
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset unable to run or jump, difficulty climbing stairs
Protein -
Owner name Nyamkhishig Sambuughin
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-12-11 18:22:30 +01:00 (CET)
Date last edited 2013-05-13 14:24:01 +02:00 (CEST)

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